Variant report

Variant	rs320120
Chromosome Location	chr11:63727105-63727106
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63724196..63727402-chr11:63741980..63743547,3	MCF-7	breast:
2	chr11:63721106..63724001-chr11:63724769..63727723,3	MCF-7	breast:
3	chr11:63708455..63711957-chr11:63724529..63727502,3	K562	blood:
4	chr11:63715459..63718256-chr11:63725234..63727442,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256100	Chromatin interaction
ENSG00000176340	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1187867	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1211783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3019784	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3132752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320123	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320147	1.00[AMR][1000 genomes]
rs320148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320149	0.86[AFR][1000 genomes]
rs320153	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34036129	1.00[AMR][1000 genomes]
rs35352499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs497037	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4980510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4980513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565004	1.00[AMR][1000 genomes]
rs576548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60969355	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591828	0.90[AFR][1000 genomes]
rs6591829	0.92[AFR][1000 genomes]
rs7112935	0.81[AFR][1000 genomes]
rs7116315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126106	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126239	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130472	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130979	0.90[AFR][1000 genomes]
rs901492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
2	chr11:63720400-63728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:63720400-63729000	Weak transcription	NHDF-Ad	bronchial
4	chr11:63721000-63728800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:63721200-63728400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:63721800-63728200	Weak transcription	Stomach Mucosa	stomach
7	chr11:63722000-63729000	Weak transcription	Small Intestine	intestine
8	chr11:63722400-63728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:63723400-63728800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:63723600-63727400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:63723600-63728400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:63723600-63728600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:63723600-63729000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:63723800-63727200	Weak transcription	HepG2	liver
15	chr11:63723800-63728200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:63723800-63728600	Weak transcription	Colonic Mucosa	Colon
17	chr11:63723800-63728800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:63723800-63729400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:63723800-63730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:63724000-63727400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:63724000-63727600	Weak transcription	Primary B cells from cord blood	blood
22	chr11:63724000-63728200	Weak transcription	Adipose Nuclei	Adipose
23	chr11:63724000-63728400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:63724000-63728400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:63724000-63728600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:63724000-63728800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:63724000-63728800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:63724000-63728800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:63724000-63728800	Weak transcription	HSMMtube	muscle
30	chr11:63724000-63729200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:63724000-63729400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:63724000-63729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:63724200-63727200	Weak transcription	Brain Angular Gyrus	brain
34	chr11:63724200-63727400	Weak transcription	Lung	lung
35	chr11:63724200-63728200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:63724200-63728200	Weak transcription	GM12878-XiMat	blood
37	chr11:63724200-63728400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:63724200-63728400	Weak transcription	HSMM	muscle
39	chr11:63724200-63728600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:63724200-63728600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:63724200-63728600	Weak transcription	HMEC	breast
42	chr11:63724200-63728800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:63724200-63728800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:63724200-63729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:63724200-63729000	Weak transcription	Fetal Lung	lung
46	chr11:63724200-63729000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:63724200-63729000	Weak transcription	Spleen	Spleen
48	chr11:63724200-63729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:63724200-63729400	Weak transcription	Osteobl	bone
50	chr11:63724200-63729600	Weak transcription	H9 Cell Line	embryonic stem cell

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